ClinVar

NM_001122681.2(SH3BP2):c.518-14C>T

Gene:

SH3BP2:SH3 domain binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

• Chr4: 2827592 (on Assembly GRCh38)
• Chr4: 2829319 (on Assembly GRCh37)

Preferred name:

NM_001122681.2(SH3BP2):c.518-14C>T

HGVS:

• NC_000004.12:g.2827592C>T
• NG_011609.1:g.39570C>T
• NG_101840.1:g.857C>T
• NM_001122681.2:c.518-14C>TMANE SELECT
• NM_001145855.2:c.602-14C>T
• NM_001145856.2:c.689-14C>T
• NM_003023.4:c.518-14C>T
• LRG_1334t1:c.518-14C>T
• LRG_1334t2:c.602-14C>T
• LRG_1334:g.39570C>T
• NC_000004.11:g.2829319C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001122681.2:c.518-14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001145855.2:c.602-14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001145856.2:c.689-14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003023.4:c.518-14C>T - intron variant - [Sequence Ontology: SO:0001627]